Canonical Allele Identifier: PA2825422941
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133072
ClinVar RCV Id: RCV000119521 RCV001787952 RCV001787957 RCV002225084 RCV001787951 RCV001787953 RCV001787954 RCV001787955 RCV001787956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His4828Tyr
CA024158
NM_001042723.2:c.14482C>T